Canonical Allele Identifier: CA388876450

Gene: CHD8

Linked Data

• dbSNP Id: rs369217288
• MyVariant Identifiers: chr14:g.21878048T>A (hg19) ; chr14:g.21409889T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409889T>A , CM000676.2:g.21409889T>A	GRCh38
NC_000014.8:g.21878048T>A , CM000676.1:g.21878048T>A	GRCh37
NC_000014.7:g.20947888T>A	NCBI36
NG_021249.1:g.32410A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1489A>T	ENSP00000406288.3:p.Lys497Ter
ENST00000555935.2:c.2A>T
ENST00000555962.6:c.-110-6847A>T	ENSP00000495174.1:n.-110-6847A>T
ENST00000557364.6:c.2326A>T	ENSP00000451601.1:p.Lys776Ter
ENST00000643469.1:c.2326A>T	ENSP00000495070.1:p.Lys776Ter
ENST00000645140.1:c.2238A>T
ENST00000645206.1:n.840A>T
ENST00000645929.1:c.1489A>T	ENSP00000494402.1:p.Lys497Ter
ENST00000646340.1:c.2332A>T	ENSP00000496730.1:p.Lys778Ter
ENST00000646647.2:c.2326A>T MANE Select	ENSP00000495240.1:p.Lys776Ter
ENST00000399982.6:c.2326A>T	ENSP00000382863.2:p.Lys776Ter
ENST00000430710.7:c.1489A>T	ENSP00000406288.3:p.Lys497Ter
ENST00000554384.1:n.194A>T
ENST00000555935.1:c.2A>T
ENST00000555962.5:n.151-6847A>T
ENST00000557364.5:c.2326A>T	ENSP00000451601.1:p.Lys776Ter
NM_001170629.1:c.2326A>T	NP_001164100.1:p.Lys776Ter
NM_020920.3:c.1489A>T	NP_065971.2:p.Lys497Ter
NM_001170629.2:c.2326A>T MANE Select	NP_001164100.1:p.Lys776Ter
NM_020920.4:c.1489A>T	NP_065971.2:p.Lys497Ter